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Acrania

MedGen UID:
147316
Concept ID:
C0702169
Congenital Abnormality
Synonyms: Acranias
SNOMED CT: Acrania (203923004)
 
HPO: HP:0030716

Definition

Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. [from HPO]

Recent clinical studies

Etiology

Wegrzyn P, Brawura-Biskupski-Samaha R, Borowski D, Górski A, Wielgoś M
Ginekol Pol 2013 Dec;84(12):1055-8. PMID: 24505955
Gorgal R, Ramalho C, Brandão O, Matias A, Montenegro N
Fetal Diagn Ther 2011;29(2):166-70. Epub 2010 Dec 11 doi: 10.1159/000320735. PMID: 21150156
Liu IF, Chang CH, Yu CH, Cheng YC, Chang FM
Ultrasound Med Biol 2005 Feb;31(2):175-8. doi: 10.1016/j.ultrasmedbio.2004.10.005. PMID: 15708455
Bianca S, Ingegnosi C, Auditore S, Reale A, Galasso MG, Bartoloni G, Arancio A, Ettore G
Arch Gynecol Obstet 2005 Mar;271(3):256-8. Epub 2004 Jun 8 doi: 10.1007/s00404-004-0621-2. PMID: 15185096
Weissman A, Diukman R, Auslender R
J Clin Ultrasound 1997 Nov-Dec;25(9):511-4. PMID: 9350573

Diagnosis

Meadows JT Jr, Hayes D Jr
Pediatr Neurol 2014 Jul;51(1):123-5. Epub 2014 Mar 4 doi: 10.1016/j.pediatrneurol.2014.02.019. PMID: 24814060
Wegrzyn P, Brawura-Biskupski-Samaha R, Borowski D, Górski A, Wielgoś M
Ginekol Pol 2013 Dec;84(12):1055-8. PMID: 24505955
Tonni G, Centini G, Bonasoni MP, Ventura A, Pattacini P, Cavalli P
Fetal Pediatr Pathol 2012 Dec;31(6):379-87. Epub 2012 Mar 23 doi: 10.3109/15513815.2012.659403. PMID: 22443204
Gorgal R, Ramalho C, Brandão O, Matias A, Montenegro N
Fetal Diagn Ther 2011;29(2):166-70. Epub 2010 Dec 11 doi: 10.1159/000320735. PMID: 21150156
Liu IF, Chang CH, Yu CH, Cheng YC, Chang FM
Ultrasound Med Biol 2005 Feb;31(2):175-8. doi: 10.1016/j.ultrasmedbio.2004.10.005. PMID: 15708455

Therapy

Jakobiec FA, Syed ZA, Stagner AM, Harris GJ, Rootman J, Yoon MK, Mombaerts I
Am J Ophthalmol 2016 Jun;166:91-102. Epub 2016 Mar 31 doi: 10.1016/j.ajo.2016.03.029. PMID: 27038895
Karlsson G, Francis G, Koren G, Heining P, Zhang X, Cohen JA, Kappos L, Collins W
Neurology 2014 Feb 25;82(8):674-80. Epub 2014 Jan 24 doi: 10.1212/WNL.0000000000000137. PMID: 24463630Free PMC Article
Ho V, Keating S, Kingdom J, Shannon P
Am J Surg Pathol 2007 Dec;31(12):1893-6. doi: 10.1097/PAS.0b013e318093e3e2. PMID: 18043045
Rajapakse RO, Korelitz BI, Zlatanic J, Baiocco PJ, Gleim GW
Am J Gastroenterol 2000 Mar;95(3):684-8. doi: 10.1111/j.1572-0241.2000.01846.x. PMID: 10710057
Zhao Q, Behringer RR, de Crombrugghe B
Nat Genet 1996 Jul;13(3):275-83. doi: 10.1038/ng0796-275. PMID: 8673125

Prognosis

Gazolla AC, da Cunha AC, Telles JA, Betat Rda S, Romano MA, Marshall I, Gobatto AM, de H Bicca AM, Arcolini CP, Dal Pai TK, Vieira LR, Targa LV, Betineli I, Zen PR, Rosa RF
Birth Defects Res A Clin Mol Teratol 2014 Oct;100(10):739-49. Epub 2014 Jun 27 doi: 10.1002/bdra.23266. PMID: 24975578
Meadows JT Jr, Hayes D Jr
Pediatr Neurol 2014 Jul;51(1):123-5. Epub 2014 Mar 4 doi: 10.1016/j.pediatrneurol.2014.02.019. PMID: 24814060
Wegrzyn P, Brawura-Biskupski-Samaha R, Borowski D, Górski A, Wielgoś M
Ginekol Pol 2013 Dec;84(12):1055-8. PMID: 24505955
Tonni G, Centini G, Bonasoni MP, Ventura A, Pattacini P, Cavalli P
Fetal Pediatr Pathol 2012 Dec;31(6):379-87. Epub 2012 Mar 23 doi: 10.3109/15513815.2012.659403. PMID: 22443204
Kurata H, Tamaki N, Sawa H, Oi S, Katayama K, Mochizuki M, Uetani Y, Yokoyama N, Nakamura H
Pediatr Neurosurg 1996;24(1):52-4. doi: 10.1159/000121015. PMID: 8817616

Clinical prediction guides

Jakobiec FA, Syed ZA, Stagner AM, Harris GJ, Rootman J, Yoon MK, Mombaerts I
Am J Ophthalmol 2016 Jun;166:91-102. Epub 2016 Mar 31 doi: 10.1016/j.ajo.2016.03.029. PMID: 27038895
Gazolla AC, da Cunha AC, Telles JA, Betat Rda S, Romano MA, Marshall I, Gobatto AM, de H Bicca AM, Arcolini CP, Dal Pai TK, Vieira LR, Targa LV, Betineli I, Zen PR, Rosa RF
Birth Defects Res A Clin Mol Teratol 2014 Oct;100(10):739-49. Epub 2014 Jun 27 doi: 10.1002/bdra.23266. PMID: 24975578
Bredaki FE, Poon LC, Birdir C, Escalante D, Nicolaides KH
Fetal Diagn Ther 2012;31(2):109-14. Epub 2012 Feb 29 doi: 10.1159/000335677. PMID: 22377693
Gorgal R, Ramalho C, Brandão O, Matias A, Montenegro N
Fetal Diagn Ther 2011;29(2):166-70. Epub 2010 Dec 11 doi: 10.1159/000320735. PMID: 21150156
Utkus A, Kazakevicius R, Ptasekas R, Kucinskas V, Beckwith JB, Opitz JM
Am J Med Genet 2001 Jun 15;101(2):163-71. PMID: 11391661

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